Hypotonia and

weakness
PREPARED BY
DR HODAN JAMA
Peripheral Neuropathy

There are many peripheral nerve diseases in childhood

The most classic presentations are:
◦ Guillain-Barré syndrome,
◦ Chronic inflammatory demyelinating polyneuropathy
(CIDP),
◦ Hereditary motor sensory neuropathy (HMSN), and tick
paralysis.
Other Peripheral neuropathies are :
◦ diabetes mellitus
◦ alcoholism
◦ chronic renal failure
◦ exposure to toxins
◦ vasculitis
◦ Neoplasm are common in adults but are rare in children
Guillain-Barre Syndrome

Acute inflammatory demyelinating polyradiculoneuropathy)

Postinfectious autoimmune peripheral neuropathy
It that can occur about 10 days after a respiratory or gastrointestinal
infection
◦ (classically Mycoplasma pneumonia or Campylobacter jejuni)

It occurs all ages

It is the most common cause of acute flaccid paralysis in children
The characteristic symptoms are
◦ areflexia,
◦ flaccidity, and
◦ symmetrical ascending weakness
◦ Progression can occur rapidly
◦ in hours, or more indolently over weeks

Typically symptoms start with

◦ numbness or paresthesia in the hands and feet,
◦ then a heavy,
◦ weak feeling in the legs.
Weakness ascends to involve the
◦ arms,
◦ trunk,
◦ bulbar muscles (tongue, pharynx, larynx)

Deep tendon reflexes are absent even when strength is

relatively preserved
Sensory loss are usually minor compared with the
weakness
Bulbar and respiratory insufficiency may progress rapidly.
Dysfunction of autonomic nerves can lead to
◦ blood pressure changes
◦ tachycardia
◦ other arrhythmias
◦ urinary retention or incontinence
◦ stool retention.

This polyneuropathy can be difficult to distinguish from an acute spinal

cord syndrome.
Preservation of bowel and bladder function
loss of arm reflexes
absence of a sensory level
lack of spinal tenderness point
A cranial nerve variant of Guillain-Barré syndrome called
the Miller Fisher variant manifests with
◦ ataxia
◦ partial ophthalmoplegia
◦ areflexia.
The cerebrospinal fluid in Guillain-Barré syndrome is sometimes normal
early in the illness
but classically shows elevated protein levels without significant
pleocytosis.
Magnetic resonance imaging (MRI) with gadolinium may reveal
enhancement of the spinal nerve roots.
Electrophysiology studies (EMG, nerve
conduction velocity [NCV]) are not always
required but can provide corroborative
diagnostic evidence and prognostic indicators.
Children in early stages of the disease should be admitted to the
hospital.
Those with moderate, severe, or rapidly progressive weakness should
be cared for in an intensive care unit.
Pulmonary and cardiac functions are monitored continuously.
Endotracheal intubation should be performed in patients with
impending respiratory failure or an inability to clear secretions.
Most patients are treated initially with intravenous
immunoglobulin (IVIG).
Plasma exchange and immunosuppressive drugs are alternatives
when IVIG treatment is unsuccessful or in rapidly progressive
disease.
Physical, occupational, and speech therapies are mainstays of
treatment.
The illness usually resolves spontaneously
80% of patients recover normal function within 1 to 12 months.
Twenty percent of patients are left with mild to moderate residual
weakness.
Some children will suffer acute relapse or chronic symptoms.
Duchenne Muscular Dystrophy

Muscular dystrophies are a group of genetic muscle diseases

characterized by
◦ progressive myofiber degeneration
◦ and the gradual replacement of muscle by fibrotic tissue.

Duchenne muscular dystrophy is the most common muscular

dystrophy
One of the most common genetic disorders of childhood.
Etiology

Duchenne muscular dystrophy is an X-linked disorder affecting

approximately 1 in 3500 boys and resulting from a gene mutation of
dystrophin.
Becker muscular dystrophy

is an allelic disorder
associated with more mild symptom
its mutations at least partially preserve the function of the resulting
gene product.
Clinicalaly
Infant boys are only rarely symptomatic in early infancy
At about 2 to 3 years of age,
◦ boys develop an awkward gait
◦ and an inability to run properly.

Some have
◦ an antecedent history of mild slowness in attaining motor milestones
◦ or poor head control during infancy.
Examination shows
Firm calf hypertrophy
Mild to moderate proximal leg weakness with
◦ hyperlordotic,
◦ waddling gait.

The child typically arises from a lying position on the floor

by using his arms to climb up his legs and body (Gower
sign)
Arm weakness is evident by age 6
years
most boys are wheelchair
dependent by age 12 years.
Other manifestations include
Cardiomyopathy
Scoliosis
Respiratory decline
In some boys, cognitive and behavioral dysfunction.
Many boys with Duchenne live into adulthood.
Most die in their 20s or early 30s,
Usually as a result of progressive respiratory decline
or cardiac dysfunction
Laboratory and Diagnostic Studies
Serum CK levels are always markedly elevated.
Diagnosis is established by genetic testing for the dystrophin gene
mutation.
Prenatal diagnosis is possible.
Approximately one third of cases represent new mutations.
Occasionally, the diagnosis is not made until a
muscle biopsy
Which shows
◦ muscle fiber degeneration and
◦ regeneration accompanied by increased
intrafascicular connective tissue.
Treatment

Steroid therapy is now instituted to

◦ slow the pace of the disease and
◦ delay motor disability.

Supportive care includes

◦ physical therapy, bracing, proper wheelchairs,
◦ Treatment of cardiac dysfunction
◦ pulmonary infections.
A multidisciplinary approach is recommended.
Through improvements inmanagement, patients are
◦ now living significantly longer than in the pre-steroid era.